ClinVar Miner

List of variants reported as uncertain significance for Familial cancer of breast by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 244
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889 0.00029
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00027
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00024
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) rs367890377 0.00021
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser) rs373876101 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser) rs138904906 0.00009
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_024675.4(PALB2):c.344G>T (p.Gly115Val) rs145598272 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val) rs376727038 0.00008
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976 0.00008
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) rs375699023 0.00008
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala) rs730881887 0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) rs376619846 0.00008
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) rs45543843 0.00007
NM_000465.4(BARD1):c.127C>A (p.Arg43Ser) rs752871324 0.00006
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln) rs753479021 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216 0.00006
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543 0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) rs200048921 0.00006
NM_024675.4(PALB2):c.1273G>A (p.Val425Met) rs576081828 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) rs200059956 0.00005
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) rs180177125 0.00005
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) rs730881894 0.00005
NM_000465.4(BARD1):c.1406G>A (p.Cys469Tyr) rs587782040 0.00004
NM_000465.4(BARD1):c.233G>A (p.Cys78Tyr) rs199780731 0.00004
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491 0.00004
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr) rs146223579 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984 0.00004
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys) rs373483056 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) rs377085677 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile) rs376641234 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys) rs747785029 0.00004
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171 0.00003
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541 0.00003
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) rs148053495 0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His) rs202194596 0.00003
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg) rs587780204 0.00003
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) rs367578415 0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) rs587781954 0.00003
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met) rs773340677 0.00003
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met) rs730881886 0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) rs587780214 0.00003
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile) rs761032954 0.00003
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) rs138273800 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys) rs587782217 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile) rs45548638 0.00003
NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys) rs587781596 0.00002
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn) rs370771157 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.1462-7C>G rs730881707 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln) rs201035780 0.00002
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly) rs773001248 0.00002
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) rs763598472 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 0.00002
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile) rs201042302 0.00002
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu) rs45464991 0.00002
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly) rs515726090 0.00002
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro) rs515726116 0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His) rs377149139 0.00002
NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe) rs758049210 0.00001
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala) rs730881408 0.00001
NM_000465.4(BARD1):c.1448A>G (p.His483Arg) rs587781874 0.00001
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val) rs150121935 0.00001
NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs) rs587782046 0.00001
NM_000465.4(BARD1):c.545T>G (p.Phe182Cys) rs878854014 0.00001
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys) rs587780032 0.00001
NM_000465.4(BARD1):c.944C>T (p.Pro315Leu) rs148760338 0.00001
NM_000465.4(BARD1):c.95G>T (p.Gly32Val) rs587782675 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703 0.00001
NM_007194.4(CHEK2):c.1096-4T>C rs587782840 0.00001
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg) rs587782817 0.00001
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) rs121908704 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His) rs878854915 0.00001
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172 0.00001
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942 0.00001
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys) rs587781710 0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695 0.00001
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.444+3A>G rs587781279 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.592+4A>G rs375905418 0.00001
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr) rs775134484 0.00001
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) rs587782416 0.00001
NM_007194.4(CHEK2):c.974A>T (p.Lys325Met) rs767656411 0.00001
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly) rs876659751 0.00001
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser) rs587782483 0.00001
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile) rs373298267 0.00001
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile) rs515726063 0.00001
NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln) rs749461008 0.00001
NM_024675.4(PALB2):c.1348A>C (p.Asn450His) rs62625274 0.00001
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser) rs587781824 0.00001
NM_024675.4(PALB2):c.1715C>T (p.Ser572Phe) rs757397623 0.00001
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe) rs1169756751 0.00001
NM_024675.4(PALB2):c.1960A>G (p.Ile654Val) rs749842477 0.00001
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys) rs62625277 0.00001
NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn) rs45537237 0.00001
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586 0.00001
NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly) rs786202846 0.00001
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn) rs148026749 0.00001
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn) rs587782765 0.00001
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser) rs370908330 0.00001
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg) rs587778585 0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) rs587782387 0.00001
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr) rs878855111 0.00001
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn) rs730881892 0.00001
NM_024675.4(PALB2):c.2965G>A (p.Val989Ile) rs764140747 0.00001
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg) rs143808171 0.00001
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val) rs863224783 0.00001
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) rs756906403 0.00001
NM_024675.4(PALB2):c.3310G>A (p.Gly1104Ser) rs188254555 0.00001
NM_024675.4(PALB2):c.3373G>T (p.Asp1125Tyr) rs146444298 0.00001
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg) rs45566737 0.00001
NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val) rs146659762 0.00001
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr) rs370404126 0.00001
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys) rs373287455 0.00001
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser) rs587781498 0.00001
NM_024675.4(PALB2):c.734C>T (p.Ala245Val) rs571063157 0.00001
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg) rs786203246 0.00001
NM_024675.4(PALB2):c.824C>T (p.Thr275Ile) rs786202499 0.00001
NM_024675.4(PALB2):c.841A>T (p.Ile281Phe) rs751882053 0.00001
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser) rs45585833 0.00001
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile) rs528541334 0.00001
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly) rs45561331 0.00001
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu) rs730881882 0.00001
NM_000465.4(BARD1):c.1126T>G (p.Ser376Ala) rs1060501279
NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn) rs1060501306
NM_000465.4(BARD1):c.1325C>T (p.Pro442Leu) rs730881417
NM_000465.4(BARD1):c.1547A>G (p.Tyr516Cys) rs876660325
NM_000465.4(BARD1):c.1751_1756dup (p.Met584_Leu585dup) rs763622701
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000465.4(BARD1):c.2284T>C (p.Trp762Arg) rs878854008
NM_007194.4(CHEK2):c.-6-2A>G rs1555932985
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) rs587782441
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr) rs863224746
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr) rs864622537
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg) rs786202446
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser) rs1555913523
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His) rs878854915
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His) rs747797219
NM_007194.4(CHEK2):c.1596del (p.Thr533fs) rs587781519
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) rs730881681
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro) rs369256181
NM_007194.4(CHEK2):c.397A>G (p.Thr133Ala) rs1060502703
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) rs72552323
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) rs587782323
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.847-6T>G rs1555917050
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) rs771860071
NM_007194.4(CHEK2):c.908+6T>C rs748988275
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) rs876661053
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp) rs786204080
NM_024675.4(PALB2):c.1708G>A (p.Glu570Lys) rs786203747
NM_024675.4(PALB2):c.2197ACT[1] (p.Thr734del) rs781693946
NM_024675.4(PALB2):c.2305_2334del (p.Leu769_Ser778del) rs1555460399
NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu) rs764925691
NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser) rs730881889
NM_024675.4(PALB2):c.2507_2509del (p.Val836del) rs587782697
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe) rs1060502744
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
NM_024675.4(PALB2):c.2836G>T (p.Ala946Ser) rs878855113
NM_024675.4(PALB2):c.2996+5G>T rs879254193
NM_024675.4(PALB2):c.2996+9del rs769414858
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg) rs515726112
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr) rs876658196
NM_024675.4(PALB2):c.437GAA[1] (p.Arg147del) rs760629975
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly) rs864622622
NM_024675.4(PALB2):c.722A>G (p.Asn241Ser) rs587780823
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg) rs587782658
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His) rs587778582
NM_024675.4(PALB2):c.843_845del (p.Arg282del) rs786203247
NM_024675.4(PALB2):c.854C>T (p.Ser285Leu) rs180177094
NM_024675.4(PALB2):c.964_975dup (p.Glu322_Ile325dup) rs876660786

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